Variant detail

mut_id 191 · c.2042delA · p.Lys681Cysfs*16

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion
HGVS
c.2042delA
Protein change
p.Lys681Cysfs*16
Location
exon 17
Domain
Not available
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated Turkish children
Authors: Metin A, Unal S, Gümrük F, Palla R, Cairo A, Underwood M, Gurgey A.
Source: Pediatr Blood Cancer (2014)
Citation: Pediatr Blood Cancer. 2014 Mar;61(3):558-61. doi: 10.1002/pbc.24764. Epub 2013 Sep 30.
PubMed: 24115559 · DOI: 10.1002/pbc.24764

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

Countries represented
Denmark (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2042delA
nt_change
Deletion
g_numb
g16
aa_first
Lys
aa_last
Cys
aa_syn
p.Lys681Cysfs*16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 119

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
93 191 141 119 cTTP compound_heterozygous Denmark male 3 unknown <1 unknown no unknown unknown